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The McCurdy Family (clockwise from left): Steve, Will, Kate, andEliza (photo courtesy of the McCurdy family)

For more on the McCurdys and the Barth Syndrome Foundation, tune in to NBC’s TODAY show onMonday, February 16.

From the day he was born in 1986, Will McCurdy was a bright, engaging, and alert child. Butwhen he reached the age at which other babies began to roll over by themselves, he did not. Then,as his peers progressed to sitting up, he also didn’t reach that milestone. His parents, Steve andKate of Westchester County, N.Y., took him to physicians up and down the East Coast to find outwhat was wrong, but none could identify the exact problem.

Two years later, Will came down with what the McCurdys thought was a bad chest cold; what’smore, they noticed that his heart was racing. When they took him to their pediatrician, he sentthem to the ER because he was concerned that the toddler might have an infection. At the hospital,they received some shocking news: Will was in heart failure and might need a heart transplant.

“I remember wondering in the ER whether all this might lead to something bigger andbroader,” says Kate. She was right.

After many medical tests, it was revealed that Will also had a white-blood-cellirregularity. One of his physicians decided to input that finding, along with Will’s other primarysymptoms–muscular weakness and heart problems–and conduct a search of the medical literature. Asingle journal article came up, by Peter Barth, a Dutch neurologist. In the paper, Dr. Barthdiscussed the case history of a family in which more than 20 males were affected by the sameproblems Will had. All of them–except for one young boy–had died.

“It was devastating when we learned this,” says Steve. “We thought we had a healthy2-year-old who had weak muscles. Suddenly he had a life-threatening illness.”

The McCurdys wrote to the Dutch physician about Will, and he replied telling them that hethought their son did indeed have the same disorder he had written about–which eventually would becalled Barth syndrome, after the doctor who first identified it. He also gently informed them thatthe five-year-old boy whom he had been treating had passed away while playing at home.

“On the one hand, we were glad we finally knew what Will had,” says Kate. “But now we knewnobody else in the world who also had it.”

Right now, there are a few hundred people, mostly males, living with Barth syndromeworldwide. However, it’s known to be under-diagnosed since all of the symptoms do not necessarilyshow up simultaneously. (A genetic test for the disorder does exist.)

In Barth syndrome, the body’s cellular metabolism is impaired, thus afflicting all systems.People with Barth have difficulty absorbing and utilizing nourishment to build tissue, especiallymuscle, and as a result, they suffer tremendous physical weakness and fatigue.

In the decade after his diagnosis, Will and his care absorbed the McCurdys. Since hissymptoms were so varied, he needed to be seen by an ever-expanding array of specialists. So rarewas Barth syndrome that Kate brought along Dr. Barth’s journal article as an explanation each timethey went to see a new physician.

Like all kids his age, Will was often on the Internet. Every once in a while, he would do asearch for the phrase “Barth syndrome” just to see if anything appeared. Nothing did–until one dayin November 1999. Will decided to try a different search engine, and after he pressed “Enter,” thenames and e-mail addresses of three women showed up on the screen. The McCurdys were all stunned.Could it be that they weren’t alone? With his parents’ permission, Will e-mailed the women andfound out that they were all mothers of children with Barth syndrome. They were planning thefirst-ever gathering of families affected by the disease at Johns Hopkins University in Baltimore,Md., in the summer of 2000.

Those e-mails–and the following get-together–changed the McCurdys’ lives. They met morethan a dozen other families from around the world who were all fighting the same disease.

“From that meeting, it became so clear that we all needed each other,” Steve says. Not onlydid they give each other some badly-needed support and empathy, they realized that, as a unitedforce, they could advance scientific understanding and treatment of the rare genetic illness. Thefollowing year, the McCurdys and three other parents from the Johns Hopkins meeting set up thenonprofitBarth Syndrome Foundation (BSF).

Will McCurdy, age 3 (photo courtesy of the McCurdy family)

Today, the BSF holds international conferences every two years with physicians, scientists,and families, and raises money in order to fund research. So far, the foundation has given out morethan $1.3 million in seed grants. To further study, BSF has started a centralized registry–withblood, DNA, and tissue samples–of people with Barth syndrome. Another priority of the foundationhas been to ensure that the entire medical community knows about the disease and its manymanifestations.

“Most doctors will see one patient with Barth syndrome in their entire professional lives,”says Steve. He adds that children who receive a diagnosis of Barth early in life have much betterchance of surviving into adulthood; without an early diagnosis, the survival rate dropsdramatically.

Will, now 23, has graduated from high school. Because of his health, he is unable to attendcollege or take on a full-time job, but he is continuing his studies at home. He takes 31 pills aday, has an implanted defibrillator to jump-start his heart if it stops, and is fedintravenously.

In 2007, he spent about one-third of the year–114 days over 8 separate admissions–in thehospital. He was better in 2008, logging 54 days as an in-patient. “For now we focus on the day today,” says Steve. “Not long ago, almost all kids with Barth syndrome died before the age of 3 sothe fact that most of them now are living into adulthood shows great progress and gives us hope.”

Will is doing his part to educate people about the disease. He has given presentations onBarth syndrome to students at nearby Sarah Lawrence College who are studying to be geneticcounselors.

To other families who are raising children with rare, chronic diseases, the McCurdys saythat the most crucial thing is support. “Find doctors with whom you can work, because it really isa team effort,” says Kate. “You need people who will listen and think outside the box.”

The McCurdys also cannot stress enough the importance of connecting with other families whoare dealing with the same illness. There is strength in numbers; by sharing medicalinformation, families can help doctors gain medical knowledge. “You also have to find a place tofeel positive and be positive,” says Steve. “One of the parents said that our group is theonly place she feels comfortable laughing about things, because everyone else expects you to besad.” Adds Kate, “We know that we are on a long journey, a marathon. We could never do this alone.”

To learn more about the Barth Syndrome Foundation, visitwww.barthsyndrome.org.And tune in to NBC’s TODAY showon Monday, February 16,for more on the McCurdys and the Barth Syndrome Foundation.

The McCurdy Family (clockwise from left): Steve, Will, Kate, andEliza (photo courtesy of the McCurdy family)

For more on the McCurdys and the Barth Syndrome Foundation, tune in to NBC’s TODAY show onMonday, February 16.

From the day he was born in 1986, Will McCurdy was a bright, engaging, and alert child. Butwhen he reached the age at which other babies began to roll over by themselves, he did not. Then,as his peers progressed to sitting up, he also didn’t reach that milestone. His parents, Steve andKate of Westchester County, N.Y., took him to physicians up and down the East Coast to find outwhat was wrong, but none could identify the exact problem.

Two years later, Will came down with what the McCurdys thought was a bad chest cold; what’smore, they noticed that his heart was racing. When they took him to their pediatrician, he sentthem to the ER because he was concerned that the toddler might have an infection. At the hospital,they received some shocking news: Will was in heart failure and might need a heart transplant.

“I remember wondering in the ER whether all this might lead to something bigger andbroader,” says Kate. She was right.

After many medical tests, it was revealed that Will also had a white-blood-cellirregularity. One of his physicians decided to input that finding, along with Will’s other primarysymptoms–muscular weakness and heart problems–and conduct a search of the medical literature. Asingle journal article came up, by Peter Barth, a Dutch neurologist. In the paper, Dr. Barthdiscussed the case history of a family in which more than 20 males were affected by the sameproblems Will had. All of them–except for one young boy–had died.

“It was devastating when we learned this,” says Steve. “We thought we had a healthy2-year-old who had weak muscles. Suddenly he had a life-threatening illness.”

The McCurdys wrote to the Dutch physician about Will, and he replied telling them that hethought their son did indeed have the same disorder he had written about–which eventually would becalled Barth syndrome, after the doctor who first identified it. He also gently informed them thatthe five-year-old boy whom he had been treating had passed away while playing at home.

“On the one hand, we were glad we finally knew what Will had,” says Kate. “But now we knewnobody else in the world who also had it.”

Right now, there are a few hundred people, mostly males, living with Barth syndromeworldwide. However, it’s known to be under-diagnosed since all of the symptoms do not necessarilyshow up simultaneously. (A genetic test for the disorder does exist.)

In Barth syndrome, the body’s cellular metabolism is impaired, thus afflicting all systems.People with Barth have difficulty absorbing and utilizing nourishment to build tissue, especiallymuscle, and as a result, they suffer tremendous physical weakness and fatigue.

In the decade after his diagnosis, Will and his care absorbed the McCurdys. Since hissymptoms were so varied, he needed to be seen by an ever-expanding array of specialists. So rarewas Barth syndrome that Kate brought along Dr. Barth’s journal article as an explanation each timethey went to see a new physician.

Like all kids his age, Will was often on the Internet. Every once in a while, he would do asearch for the phrase “Barth syndrome” just to see if anything appeared. Nothing did–until one dayin November 1999. Will decided to try a different search engine, and after he pressed “Enter,” thenames and e-mail addresses of three women showed up on the screen. The McCurdys were all stunned.Could it be that they weren’t alone? With his parents’ permission, Will e-mailed the women andfound out that they were all mothers of children with Barth syndrome. They were planning thefirst-ever gathering of families affected by the disease at Johns Hopkins University in Baltimore,Md., in the summer of 2000.

Those e-mails–and the following get-together–changed the McCurdys’ lives. They met morethan a dozen other families from around the world who were all fighting the same disease.

“From that meeting, it became so clear that we all needed each other,” Steve says. Not onlydid they give each other some badly-needed support and empathy, they realized that, as a unitedforce, they could advance scientific understanding and treatment of the rare genetic illness. Thefollowing year, the McCurdys and three other parents from the Johns Hopkins meeting set up thenonprofitBarth Syndrome Foundation (BSF).

Will McCurdy, age 3 (photo courtesy of the McCurdy family)

Today, the BSF holds international conferences every two years with physicians, scientists,and families, and raises money in order to fund research. So far, the foundation has given out morethan $1.3 million in seed grants. To further study, BSF has started a centralized registry–withblood, DNA, and tissue samples–of people with Barth syndrome. Another priority of the foundationhas been to ensure that the entire medical community knows about the disease and its manymanifestations.

“Most doctors will see one patient with Barth syndrome in their entire professional lives,”says Steve. He adds that children who receive a diagnosis of Barth early in life have much betterchance of surviving into adulthood; without an early diagnosis, the survival rate dropsdramatically.

Will, now 23, has graduated from high school. Because of his health, he is unable to attendcollege or take on a full-time job, but he is continuing his studies at home. He takes 31 pills aday, has an implanted defibrillator to jump-start his heart if it stops, and is fedintravenously.

In 2007, he spent about one-third of the year–114 days over 8 separate admissions–in thehospital. He was better in 2008, logging 54 days as an in-patient. “For now we focus on the day today,” says Steve. “Not long ago, almost all kids with Barth syndrome died before the age of 3 sothe fact that most of them now are living into adulthood shows great progress and gives us hope.”

Will is doing his part to educate people about the disease. He has given presentations onBarth syndrome to students at nearby Sarah Lawrence College who are studying to be geneticcounselors.

To other families who are raising children with rare, chronic diseases, the McCurdys saythat the most crucial thing is support. “Find doctors with whom you can work, because it really isa team effort,” says Kate. “You need people who will listen and think outside the box.”

The McCurdys also cannot stress enough the importance of connecting with other families whoare dealing with the same illness. There is strength in numbers; by sharing medicalinformation, families can help doctors gain medical knowledge. “You also have to find a place tofeel positive and be positive,” says Steve. “One of the parents said that our group is theonly place she feels comfortable laughing about things, because everyone else expects you to besad.” Adds Kate, “We know that we are on a long journey, a marathon. We could never do this alone.”

To learn more about the Barth Syndrome Foundation, visitwww.barthsyndrome.org.And tune in to NBC’s TODAY showon Monday, February 16,for more on the McCurdys and the Barth Syndrome Foundation.